Structural brain abnormalities among relatives of patients with schizophrenia: Implications for linkage studies

Schizophrenia Research

Volumn 60, Issue 2-3, 2003, Pages 125-140

  Faraone, Stephen V ^a,b,c,d,g   Seidman, Larry J ^a,b   Kremen, William S ^e   Kennedy, David ^c   Makris, Nikos ^c   Caviness, Verne S ^c   Goldstein, Jill ^a,b   Tsuang, Ming T ^a,b,c,d,f  

^a MASSACHUSETTS MENTAL HEALTH CENTER   (United States)

^b Harvard Inst Psychiat E   (United States)

^c MASSACHUSETTS GENERAL HOSPITAL   (United States)

^d VETERANS AFFAIRS MEDICAL CENTER   (United States)

^e UNIVERSITY OF CALIFORNIA   (United States)

^f HARVARD SCHOOL OF PUBLIC HEALTH   (United States)

^g HARVARD UNIVERSITY   (United States)

Author keywords

MRI phenotype; Schizophrenia; Structural brain abnormalities

Indexed keywords

ADULT; AGED; AREA UNDER THE CURVE; ARTICLE; BRAIN MALFORMATION; BRAIN REGION; CLINICAL ARTICLE; CONTROLLED STUDY; FACTORIAL ANALYSIS; GENETIC ASSOCIATION; GENETIC LINKAGE; HUMAN; LINKAGE ANALYSIS; NUCLEAR MAGNETIC RESONANCE IMAGING; PHENOTYPE; PRIORITY JOURNAL; RECEIVER OPERATING CHARACTERISTIC; RELATIVE; SCHIZOPHRENIA;

EID: 0037395330     PISSN: 09209964     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0920-9964(02)00304-3     Document Type: Article

References (92)

1. Amaral D.G., Price J.L. Amygdalo-cortical projections in the monkey (Macaca fascicularis). J. Comp. Neurol. 230:1984;465-496.
2. Barbas H., De Olmos J. Projections from the amygdala to basoventral and mediodorsal prefrontal regions in the rhesus monkey. J. Comp. Neurol. 300:1990;549-571.
3. Barré W.F.C., Hulshoff Pol H.E., Boomsma D.I., Posthuma D., de Geus E.J.C., Schnack H.G., van Haren N.E.M., van Oel C.J., Kahn R.S. Quantitative genetic modeling of variation in human brain morphology. Cereb. Cortex. 11:2001;816-824.
4. Bartley A.J., Jones D.W., Weinberger D.R. Genetic variability of human brain size and cortical gyral patterns. Brain. 120:1997;257-269.
5. Benes F.M. Alterations of neural circuitry within layer II of anterior cingulate cortex in schizophrenia. J. Psychiatr. Res. 33:1999;511-512.
6. Benes F.M. Evidence for altered trisynaptic circuitry in schizophrenic hippocampus. Biol. Psychiatry. 46:1999;589-599.
7. Binder D.A. On the variances of asymptotically normal estimators from complex surveys. Int. Stat. Rev. 51:1983;279-292.
8. Boehnke M., Langefeld C.D. Genetic association mapping based on discordant sib pairs: the discordant alleles test. Am. J. Hum. Genet. 62:1998;950-961.
9. Cannon T.D., Mednick S.A., Parnas J. Genetic and perinatal determinants of structural brain deficits in schizophrenia. Arch. Gen. Psychiatry. 46:1989;883-889.
10. Cannon T.D., Mednick S.A., Parnas J., Schulsinger F., Praestholm J., Vestergaard A. Developmental brain abnormalities in the offspring of schizophrenic mothers: I. Contributions of genetic and perinatal factors. Arch. Gen. Psychiatry. 50:1993;551-564.
11. Carmelli D., DeCarli C., Swan G.E., Jack L.M., Reed T., Wolf P.A., Miller B.L. Evidence for genetic variance in white matter hyperintensity volume in normal elderly male twins. Stroke. 29:1998;1177-1181.
12. Catts S.V., McConaghy N., Ward P.B., Fox A.M., Hadzi-Pavlovic D. Allusive thinking in parents of schizophrenics. Meta-analysis. J. Nerv. Ment. Dis. 181:1993;298-302.
13. Caviness V., Meyer J., Makris N., Kennedy D. MRI-based topographic parcellation of human neocortex: an anatomically specified method with estimate of reliability. J. Cogn. Neurosci. 8:1996;566-587.
14. Cloninger C.R. Turning point in the design of linkage studies of schizophrenia. Am. J. Med. Genet. 54:1994;83-92.
15. Cornblatt B., Erlenmeyer-Kimling L. Global attentional deviance as a marker of risk for schizophrenia: specificity and predictive validity. J. Abnorm. Psychology. 94:1985;470-486.
16. Cornblatt B.A., Keilp J.G. Impaired attention, genetics, and the pathophysiology of schizophrenia. Schizophr. Bull. 20:1994;31-46.
17. Egan M.F., Goldberg T.E., Kolachana B.S., Callicott J.H., Mazzanti C.M., Straub R.E., Goldman D., Weinberger D.R. Effect of COMT Val108/158 Met genotype on frontal lobe function and risk for schizophrenia. Proc. Natl. Acad. Sci. U. S. A. 98:2001;6917-6922.
18. Erlenmeyer-Kimling L., Cornblatt B., Friedman D., Marcuse Y., Rutschmann J., Simmens S., Devi F. Neurological, electrophysiological, and attentional deviations in children at risk for schizophrenia. Henn F.A., Nasrallah H.A. Schizophrenia as a Brain Disease. 1982;61-98 Oxford Univ. Press, New York.
19. Faraone S.V., Tsuang M.T. Quantitative models of the genetic transmission of schizophrenia. Psychol. Bull. 98:1985;41-66.
20. Faraone S.V., Tsuang M.T. Measuring diagnostic accuracy in the absence of a gold standard. Am. J. Psychiatry. 151:1994;650-657.
21. Faraone S.V., Kremen W.S., Lyons M.J., Pepple J.R., Seidman L.J., Tsuang M.T. Diagnostic accuracy and linkage analysis: how useful are schizophrenia spectrum phenotypes? Am. J. Psychiatry. 152:1995;1286-1290.
22. Faraone S.V., Seidman L.J., Kremen W.S., Pepple J.R., Lyons M.J., Tsuang M.T. Neuropsychological functioning among the nonpsychotic relatives of schizophrenic patients: a diagnostic efficiency analysis. J. Abnorm. Psychology. 104:1995;286-304.
23. Faraone S.V., Seidman L.J., Kremen W.S., Toomey R., Lyons M.J., Tsuang M.T. Neuropsychological functioning among the elderly nonpsychotic relatives of schizophrenic patients. Schizophr. Res. 21:1996;27-31.
24. Faraone S.V., Seidman L.J., Kremen W.S., Toomey R., Pepple J.R., Tsuang M.T. Neuropsychological functioning among the nonpsychotic relatives of schizophrenic patients: a four-year follow-up study. J. Abnorm. Psychology. 108:1999;176-181.
25. Faraone S.V., Tsuang D., Tsuang M.T. Genetics of Mental Disorders: A Guide for Students, Clinicians, and Researchers. 1999;Guilford Publications, New York, NY.
26. Faraone S.V., Seidman L.J., Kremen W.S., Toomey R., Pepple J.R., Tsuang M.T. Neuropsychological functioning among the nonpsychotic relatives of schizophrenic patients: the effect of genetic loading. Biol. Psychiatry. 48:2000;120-126.
27. Filipek P.A., Richelme C., Kennedy D.N., Caviness V.S. The young adult human brain: an MRI-based morphometric analysis. Cereb. Cortex. 4:1994;344-360.
28. Freedman R., Coon H., Myles-Worsley M., Orr-Urtreger A., Olincy A., Davis A., Polymeropoulos M., Holik J., Hopkins J., Hoff M., Rosenthal J., Waldo M., Reimherr F.P.W., Wender P., Yaw J., Young D., Breese C., Adams C., Patterson D., Adler L., Kruglyak L., Leonard S., Byerley W. Linkage of a neurophysiological deficit in schizophrenia to a chromosome 15 locus. Proc. Natl. Acad. Sci. U. S. A. 94:1997;587-592.
29. Friedman D., Squires-Wheeler E. Event-related potentials (ERPs) as indicators of risk for schizophrenia. Schizophr. Bull. 20:1994;63-74.
30. Gershon E.S., Cloninger C.R. Genetic Approaches to Mental Disorders. 1994;American Psychiatric Press, Washington, DC.
31. Goldstein J.M., Goodman J.M., Seidman L.J., Kennedy D., Makris N., Lee H., Tourville J., Caviness V.S., Faraone S.V., Tsuang M.T. Cortical abnormalities in schizophrenia identified by structural magnetic resonance imaging. Arch. Gen. Psychiatry. 57:1999;537-548.
32. Gottesman I.I. Schizophrenia Genesis: The Origin of Madness. 1991;Freeman, New York.
33. Gottesman I.I., McGue M. Mixed and mixed-up models for the transmission of schizophrenia. Cichetti W.G.D. Thinking Clearly About Psychology: Essays in Honor of Paul E. Meehl. 1990;295-312 University of Minnesota Press, Minneapolis.
34. Gottesman I.I., Shields J. Schizophrenia: The Epigenetic Puzzle. 1982;Cambridge Univ. Press, Cambridge.
35. Gottesman I.I., Carey G., Hanson D.R. Pearls and perils in epigenetic psychopathology. Guze S.B., Earls F.J., Barrett J.E. American Psychopathological Association Series. Childhood Psychopathology and Development. 1983;287-300 Raven Press, New York.
36. Gu C., Rao D.C. A linkage strategy for detection of human quantitative-trait loci: I. Generalized relative risk ratios and power of sib-pairs with extreme values. Am. J. Hum. Genet. 61:1997;200-210.
37. Gu C., Todorov A., Rao D.C. Combining extremely concordant sibpairs with extremely discordant sibpairs provides a cost effective way to linkage analysis of quantitative trait loci. Genet. Epidemiol. 13:1996;513-534.
38. Harrison P. The neuropathology of schizophrenia: a critical review of the data and their interpretation. Brain. 122:1999;593-624.
39. Huber P.J. The behavior of maximum likelihood estimates under non-standard conditions. Proceedings of the Fifth Berkeley Symposium on Mathematical Statistics and Probability. 1:1967;221-233.
40. Keefe R.S.E., Silverman J.M., Siever L.J., Cornblatt B.A. Refining phenotype characterization in genetic linkage studies of schizophrenia. Soc. Biol. 38:1991;197-218.
41. Kennedy D.N., Filipek P.A., Caviness V.S. Anatomic segmentation and volumetric calculations in nuclear magnetic resonance imaging. IEEE Trans. Med. Imag. 8:1989;1-7.
42. Kish L., Frankel M.R. Inference from complex samples. J. R. Stat. Soc. A:1974;1-37.
43. Kremen W.S., Tsuang M.T., Faraone S.V., Lyons M.L. Using vulnerability indicators to compare conceptual models of genetic heterogeneity in schizophrenia. J. Nerv. Ment. Dis. 180:1992;141-152.
44. Kremen W.S., Seidman L.J., Pepple J.R., Lyons M.J., Tsuang M.T., Faraone S.V. Neuropsychological risk indicators for schizophrenia: a review of family studies. Schizophr. Bull. 20:1994;103-119.
45. Lawrie S.M., Whatley H., Kesteiman J.N., Abukmeil S.S., Byrne M., Hodges A., Rimmington J.E., Best J.J.K., Owens D.G.C., Johnstone E.C. Magnetic resonance imaging of brain in people at high risk of developing schizophrenia. Lancet. 353:1999;30-33.
46. Lenzenweger M.F. Psychometric high-risk paradigm, perceptual aberrations, and schizotypy: an update. Schizophr. Bull. 20:1994;121-136.
47. Levy D.L., Holzman P.S., Matthysse S., Mendell N.R. Eye tracking and schizophrenia: a selective review. Schizophr. Bull. 20:1994;47-62.
48. Lord F.M., Novick M.R. Statistical Theories of Mental Test Scores. 1968;Addison-Wesley, Reading, MA.
49. Makris N., Meyer J.W., Bates J.F., Yeterian E.H., Kennedy D.N., Caviness V.S. MRI-based topographic parcellation of human cerebral white matter and nuclei: II. Rationale and applications with systematics of cerebral connectivity. NeuroImage. 9:1999;18-45.
50. McCarley R., Wible C., Frumin M., Hirayasu Y., Levitt J., Fischer I., Shenton M. MRI anatomy of schizophrenia. Biol. Psychiatry. 45:1999;1099-1119.
51. McGue M., Gottesman I.I., Rao D.C. The transmission of schizophrenia under a multifactorial threshold model. Am. J. Hum. Genet. 35:1983;1161-1178.
52. McGuffin P., Farmer A., Gottesman I.I. Is there really a split in schizophrenia? The genetic evidence. Br. J. Psychiatry. 150:1987;581-592.
53. Mednick S.A., Parnas J., Schulsinger R. The Copenhagen High Risk Project. Schizophr. Bull. 13:1987;485-495.
54. Moldin S.O. Indicators of liability to schizophrenia: perspectives from genetic epidemiology. Schizophr. Bull. 20:1994;169-184.
55. Moldin S.O., Erlenmeyer-Kimling L. Measuring liability to schizophrenia: progress report 1994: editor's introduction. Schizophr. Bull. 20:1994;25-30.
56. Nelson M., Saykin A., Flashman L., Riordan H. Hippocampal volume reduction in schizophrenia as assessed by magnetic resonance imaging: a meta-analytic study. Arch. Gen. Psychiatry. 55:1998;433-440.
57. Nunnally J.C. Psychometric Theory. 2nd edn. 1978;McGraw-Hill, New York.
58. Ott J. Genetic linkage and complex diseases: a comment. Genet. Epidemiol. 7:1990;35-36.
59. Ott J. Invited editorial: cutting a Gordian knot in the linkage analysis of complex human traits. Am. J. Hum. Genet. 46:1990;219-221.
60. Pennington B.F., Filipek P.A., Lefly D., Chhabildas N., Kennedy D.N., Simon J.H., Filley C.M., Galaburda A., DeFries J.C. A twin MRI study of size variations in human brain. J. Cogn. Neurosci. 12:2000;223-232.
61. Pfefferbaum A., Sullivan E.V., Swan G.E., Carmelli D. Brain structure in men remains highly heritable in the seventh and eighth decades of life. Neurobiol. Aging. 21:2000;63-74.
62. Rademacher J., Galaburda A.M., Kennedy D.N., Filipek P.A., Caviness V.S. Human cerebral cortex: localization, parcellation, and morphometry with magnetic resonance imaging. J. Cogn. Neurosci. 4:1992;352-537.
63. Rakic P., Bourgeois J.P., Eckenhoff M.F., Zecevic N., Goldman-Rakic P.S. Concurrent overproduction of synapses in diverse regions of the primate cerebral cortex. Science. 232:1986;232-235.
64. Reveley A.M., Reveley M.A., Clifford R.M. Cerebral ventricular size in twins discordant for schizophrenia. Lancet. I:1982;540-541.
65. Reveley A.M., Reveley M.A., Murray R.M. Cerebral ventricular enlargement in non-genetic schizophrenia: a controlled twin study. Br. J. Psychiatry. 144:1984;89-93.
66. Risch N. Genetic linkage and complex diseases, with special reference to psychiatric disorders. Genet. Epidemiol. 7:1990;3-7.
67. Risch N. Linkage strategies for genetically complex traits: I. Multilocus models. Am. J. Hum. Genet. 46:1990;222-228.
68. Risch N. Linkage strategies for genetically complex traits: II. The power of affected relative pairs. Am. J. Hum. Genet. 46:1990;229-241.
69. Risch N., Zhang H. Extreme discordant sib pairs for mapping quantitative trait loci in humans. Science. 268:1995;1584-1589.
70. Risch N., Zhang H. Mapping quantitative trait loci with extreme discordant sib pairs: sampling considerations. Am. J. Hum. Genet. 58:1996;836-843.
71. Seidman L.J., Faraone S.V., Goldstein J.M., Goodman J.M., Kremen W.S., Matsuda G., Hoge E.A., Kennedy D.N., Makris N., Caviness V.S., Tsuang M.T. Reduced subcortical brain volumes in nonpsychotic siblings of schizophrenic patients: a pilot MRI study. Am. J. Med. Genet. 74:1997;507-514.
72. Seidman L.J., Faraone S.V., Goldstein J.M., Goodman J.M., Kremen W.S., Toomey R., Tourville J., Kennedy D., Makris N., Caviness V.S., Tsuang M.T. Thalamic and amygdala-hippocampal volume reductions in first degree relatives of schizophrenic patients: an MRI-based morphometric analysis. Biol. Psychiatry. 46:1999;941-954.
73. Seidman, L.J., Faraone, S.V., Goldstein, J.M., Kremen, W.S., Horton, N.J., Makris, N., Toomey, R., Kennedy, D., V.S., C., M.T., T., in press. Left hippocampal volume as a vulnerability indicator for schizophrenia: an MRI morphometric study of non-psychotic first-degree relatives. Arch. Gen. Psychiatry.
74. Shenton M., Kikinis R., Jolesz F., Pollack S., LeMay M., Wible C., Hokama H., Martin J., Metcalf D., Coleman M., McCarley R. Abnormalities of the left temporal lobe and thought disturbances in schizophrenia: a quantitative magnetic resonance imaging study. N. Engl. J. Med. 327:1992;604-612.
75. Shenton M.E., Wible C.G., McCarley R.W. MRI studies in schizophrenia. Krishnan K.R.R., Doraiswamy P.M. Brain Imaging in Clinical Psychiatry. 1997;297-380 Marcel Dekker, New York.
76. Spitzer R.L., Endicott J. Schedule for Affective Disorders and Schizophrenia. 1978;Biometrics Research Department, New York State Psychiatric Institute, New York.
77. Spitzer R.L., Williams J.B.W., Gibbon M. Structured Clinical Interview for DSM-III-R Personality Disorders (SCID-II). 1987;Biometrics Research Department, New York State Psychiatric Institute, New York, NY.
78. Stangl D., Zimmerman M. Structured Interview for the DSM-III Personality Disorders. 1983;The University of Iowa, Iowa City, IA.
79. Stata Reference Manual: Release 6.0. 1999;Stata, College Station, TX.
80. Suarez B.K., Hampe C.L., Van Eerdewegh P. Problems of replicating linkage claims in psychiatry. Gershon E.S., Cloninger C.R., Barrett J.E. Genetic Approaches in Mental Disorders. 1994;23-46 American Psychiatric Press, Washington, DC.
81. Swets J.A., Pickett R.M. Evaluation of Diagnostic Systems. Methods From Signal Detection Theory. 1982;Academic Press, New York.
82. Tsuang M.T., Faraone S.V. Epidemiology and behavioral genetics of schizophrenia. Watson S.J. Biology of Schizophrenia and Affective Disease. 1994;163-195 Raven Press, New York, NY.
83. Tsuang M.T., Faraone S.V. The case for heterogeneity in the etiology of schizophrenia. Schizophr. Res. 17:1995;161-175.
84. Tsuang M.T., Faraone S.V. The frustrating search for schizophrenia genes. Am. J. Med. Genet. 97:2000;1-3.
85. Tsuang M.T., Gilbertson M.W., Faraone S.V. The genetics of schizophrenia: current knowledge and future directions. Schizophr. Res. 4:1991;157-171.
86. Tsuang M.T., Faraone S.V., Lyons M.J. Identification of the phenotype in psychiatric genetics. Eur. Arch. Psychiatr. Neurol. Sci. 243:1993;131-142.
87. Tsuang M.T., Stone W.S., Faraone S.V. Schizophrenia: a review of genetic studies. Harv. Rev. Psychiatr. 7:1999;185-207.
88. Tsuang M.T., Faraone S.V., Bingham S., Young K., Prabhudesai S., Haverstock S.L., Mena F., Menon S., Pepple J., Johnson J., Baldwin C., Weiss D., Collins J. The Department of Veterans Affairs Cooperative studies program genetic linkage study of schizophrenia: ascertainment methods and sample description. Am. J. Med. Genet. 96:2000;342-347.
89. Vincent K.R., Castillo I.M., Hauser R.I., Zapata J.A., Stuart H.J., Cohn C.K., O'Shanick G.J. MMPI-168 Codebook. 1984;Ablex Pub. Norwood, NJ.
90. Weinberger D.R. Cell biology of the hippocampal formation in schizophrenia. Biol. Psychiatry. 45:1999;395-402.
91. Weinberger D.R., DeLisi L.E., Neophytides A.N., Wyatt R.J. Familial aspects of CT scan abnormalities in chronic schizophrenic patients. Psychiatry Res. 4:1981;65-71.
92. Witelson S.F. Hand and sex differences in the isthmus and genu of the human corpus callosum. A postmortem morphological study. Brain. 112(Pt 3):1989;799-835.